ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.4136G>A (p.Arg1379Gln)

dbSNP: rs2145258691
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002227775 SCV002506882 uncertain significance Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 2021-07-10 criteria provided, single submitter clinical testing

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